Article
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2022
Neilson Derek E, Zech Michael, Hufnagel Robert B, Slone Jesse, Wang Xinjian, Homan Shelli, Gutzwiller Lisa M, Leslie Elizabeth J, Leslie Nancy D, Xiao Jianfeng, Hedera Peter, LeDoux Mark S, Gebelein Brian, Wilbert Friederike, Eckenweiler Matthias, Winkelmann Juliane, Gilbert Donald L, Huang Taosheng
Abstract excerpt
BACKGROUND: In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31. OBJECTIVE: The aim of this study is to identify the genetic cause and molecular basis of an unusual autosomal dominant spastic paraplegia and dystonia. METHODS: Whole exome sequencing following linkage analysis was...
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